Version: 8.0.0
Date: Tue Jan 28 2025
Eif2ak3
Mus musculusMGI:1341830
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Eif2ak3

Species
Mus musculus
Symbol
Eif2ak3
Name
eukaryotic translation initiation factor 2 alpha kinase 3
Synonyms
  • AI427929
  • expressed sequence AI427929
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity; misfolded protein binding activity; and protein kinase activity. Involved in several processes, including PERK-mediated unfolded protein response; protein phosphorylation; and regulation of gene expression. Acts upstream of or within several processes, including intracellular signal transduction; regulation of apoptotic process; and regulation of primary metabolic process. Located in endoplasmic reticulum membrane and endoplasmic reticulum quality control compartment. Is expressed in several structures, including cerebral cortex; eye; liver; pancreas tip epithelium; and tooth. Used to study Wolcott-Rallison syndrome. Human ortholog(s) of this gene implicated in Wolcott-Rallison syndrome and type 1 diabetes mellitus. Orthologous to human EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3).
MGI Description
PHENOTYPE: Homozygous mutant mice develop exocrine pancreatic insufficiency and progressive diabetes mellitus. They are growth retarded, hyperglycemic, exhibit increased cell death in the pancreas, have decreased numbers of pancreatic beta cells and about half diebefore weaning. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11042
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
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    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Eif2ak3 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            Eif2ak3 role
            Eif2ak3 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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